Literature

Biopsy

De Vos, A., and Van Steirteghem, A. (2001) Aspects of biopsy procedures prior to preimplantation genetic diagnosis. Prenat. Diagn.; 21: 767-80. Although slightly out of date, this review still gives a complete overview of what’s available. Includes discussion of laser biopsy.

Joris, H., De Vos, A., Janssens, R., Devroey, P., Liebaers, I., and Van Steirteghem, A. (2003) Comparison of the results of human embryo biopsy and outcome of PGD after zona drilling using acid Tyrode medium or a laser. Hum. Reprod.; 18: 1896-902. Shows the possibilities of laser biopsy.

De Boer KA, Catt JW, Jansen RPS, Leigh D and McArthur: Moving to blastocyst biopsy for preimplantation genetic diagnosis and single embryo transfer at Sydney IVF. Fertility and Sterility 2004; 82(2): 295-298).

McArthur, S. J., Leigh, D., Marshall, J. T., de Boer, K. A., and Jansen, R. P. (2005) Pregnancies and live births after trophectoderm biopsy and preimplantation genetic testing of human blastocysts. Fertil. Steril.; 84: 1628-36. After several decades since it was first described, blastocyst biopsy finally makes it to the clinic.

Kokkali G, Traeger-Synodinos J, Vrettou C, Stavrou D, Jones GM, Cram DS, Makrakis E, Trounson AO, Kanavakis E, Pantos K. Blastocyst biopsy versus cleavage stage biopsy and blastocyst transfer for preimplantation genetic diagnosis of beta-thalassaemia: a pilot study. Hum Reprod. 2007 Jan 29; [Epub ahead of print]

Cieslak-Janzen, J., Tur-Kaspa, I., Ilkevitch, Y., Bernal, A., Morris, R., Verlinsky, Y. (2006) Multiple micromanipulations for preimplantation genetic diagnosis do not affect embryo development to the blastocyst stage. Fertil Steril 85, 1826-1828. The advocates of polar body biopsy show that it can be used in conjunction with cleavage stage biopsy

Chromosome abnormalities

Munne S. Preimplantation genetic diagnosis of numerical and structural chromosome abnormalities. Reprod Biomed Online. 2002;4:183-196.

Scriven PN, Flinter FA, Braude PR, and Ogilvie CM: Robertsonian translocations – reproductive risks and indications for preimplantation genetic diagnosis. Hum Reprod. 2001; 16(11):2267-73

Wilton L: Preimplantation genetic diagnosis and chromosome analysis of blastomeres using comparative genome hybridization. Hum Reprod Update 2004.

PGD for monogenic disorders

Lewis, C. M., Pinel, T., Whittaker, J. C., and Handyside, A. H. (2001) Controlling misdiagnosis errors in preimplantation genetic diagnosis: a comprehensive model encompassing extrinsic and intrinsic sources of error. Hum. Reprod.; 16: 43-50. Theoretical article on risk assessment when performing PGD for SGD at the single cell level

Geraedts J and Liebaers I: Preimplantation genetic diagnosis for Huntington’s disease, in Prenatal testing for Late-onset Neurogenetic Diseases, eds,

Evers-Kiebooms G, Zoeteweij MW and Harper PS, BIOS Scientific Publishers 2002, UK.

Stern et al.: Non-disclosing preimplantation genetic diagnosis for Huntington’s disease, Prenat Diag 2002; 22(6):503-07.

Piyamongkol W, Bermudez MG, Harper JC, Wells D. Detailed investigation of factors influencing amplification efficiency and allele drop-out in single cell PCR: implications for preimplantation genetic diagnosis. Mol Hum Reprod. 2003 Jul;9(7):411-20. PMID: 12802048 [PubMed - in process]

Fiorentino, F., Biricik, A., Nuccitelli, A., De Palma, R., Kahraman, S., Iacobelli, M., Trengia, V., Caserta, D., Bonu, M. A., Borini, A., and Baldi, M. (2006) Strategies and clinical outcome of 250 cycles of Preimplantation Genetic Diagnosis for single gene disorders. Hum. Reprod.; 21: 670-84. Overview of the work of one of the larger groups involved in PGD for SGD.

Examples of how multiplex PCR works for PGD for SGD, and how it can be applied

Handyside, A. H., Kontogianni, E. H., Hardy, K., and Winston, R. M. (1990) Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature; 344: 768-70. The first report of clinical application of PGD. Landmark article with an important influence on legislation in the UK

Dreesen, J. C., Jacobs, L. J., Bras, M., Herbergs, J., Dumoulin, J. C., Geraedts, J. P., Evers, J. L., and Smeets, H. J. (2000) Multiplex PCR of polymorphic markers flanking the CFTR gene; a general approach for preimplantation genetic diagnosis of cystic fibrosis. Mol. Hum. Reprod.; 6: 391-6. One of the earliest examples of the use of multiplex PCR at the single cell level.

Apessos, A., Abou-Sleiman, P. M., Harper, J. C., and Delhanty, J. D. (2001) Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers. Prenat. Diagn.; 21: 504-11. This article shows the possibilities offered by multiplex PCR, but also shows that sometimes the disease itself can interfere with fertility treatment

Piyamongkol, W., Harper, J. C., Sherlock, J. K., Doshi, A., Serhal, P. F., Delhanty, J. D., and Wells, D. (2001) A successful strategy for preimplantation genetic diagnosis of myotonic dystrophy using multiplex fluorescent PCR. Prenat. Diagn.; 21: 223-32. Useful for the description of linked markers for DM1

Sermon, K., De Rijcke, M., Lissens, W., De Vos, A., Platteau, P., Bonduelle, M., Devroey, P., Van Steirteghem, A. and Liebaers, I. (2002) Preimplantation genetic diagnosis for Huntington’s disease with exclusion testing. Eur. J. Hum. Genet, 10, 591-598. Includes ethical considerations on exclusion testing for HD

Goossens, V., Sermon, K., Lissens, W., De Rycke, M., Saerens, B., De Vos, A., Henderix, P., Van de Velde, H., Platteau, P., Van Steirteghem, A., Devroey, P., and Liebaers, I. (2003) Improving clinical preimplantation genetic diagnosis for cystic fibrosis by duplex PCR using two polymorphic markers or one polymorphic marker in combination with the detection of the DeltaF508 mutation. Mol. Hum. Reprod.; 9: 559-67. PGD for one of the commonest SGD in Europe and a large clinical setting

Moutou, C., Gardes, N., and Viville, S.. (2003) Duplex PCR for preimplantation genetic diagnosis (PGD) of spinal muscular atrophy. Prenat. Diagn.; 23: 685. Generally useful article for the second most frequent SGD in European populations.

Moutou, C., Gardes, N., and Viville, S. (2004) Duplex, triplex and quadruplex PCR for the preimplantation genetic diagnosis (PGD) of cystic fibrosis (CF), an exhaustive approach. Prenat. Diagn.; 24: 562-9. Important source of information onlarge-scale application of PGD for CF

Moutou, C., Gardes, N., and Viville, S. (2004) New tools for preimplantation genetic diagnosis of Huntington's disease and their clinical applications. Eur. J. Hum. Genet.; 12: 1007-14. Describes the extremely useful HD marker 11CAHD, both for direct diagnosis and exclusion testing. A must!

De Rycke, M., Georgiou, I., Sermon, K., Lissens, W., Henderix, P., Joris, H., Platteau, P., Van Steirteghem, A., and Liebaers, I. (2005) PGD for autosomal dominant polycystic kidney disease type 1. Mol. Hum. Reprod.; 11: 65-71. Classic description of multiplex PGD for a SGD that is caused by multiple mutations.

Spits, C., De Rycke, M., Van Ranst, N., Joris, H., Verpoest, W., Lissens, W., Devroey, P., Van Steirteghem, A., Liebaers, I., and Sermon, K. (2005) Preimplantation genetic diagnosis for neurofibromatosis type 1. Mol. Hum. Reprod.; 11: 381-7.

Spits, C., De Rycke, M., Verpoest, W., Lissens, W., Van Steirteghem, A., Liebaers, I., and Sermon, K. (2006) Preimplantation genetic diagnosis for Marfan syndrome. Fertil. Steril.; 86: 310-20. Describe a large series of useful markers for SGD with numerous different mutations

Renwick, P. J., Trussler, J., Ostad-Saffari, E., Fassihi, H., Black, C., Braude, P., Ogilvie, C. M., and Abbs, S.. (2006) Proof of principle and first cases using preimplantation genetic haplotyping-a paradigm shift for embryo diagnosis. Reprod. Biomed. Online.; 13: 110-9 First examples of the clinical application of MDA in PGD for SGD

Spits, C., Le Caignec, C., De Rycke, M., Van Haute, L., Van Steirteghem, A., Liebaers, I., and Sermon, K. (2006) Optimization and evaluation of single-cell whole-genome multiple displacement amplification. Hum. Mutat.; 27: 496-503. Comprehensive description of optimization of MDA on single cells

HLA

Fiorentino, F., Kahraman, S., Karadayi, H., Biricik, A., Sertyel, S., Karlikaya, G., Saglam, Y., Podini, D., Nuccitelli, A., and Baldi, M. (2005) Short tandem repeats haplotyping of the HLA region in preimplantation HLA matching. Eur. J. Hum. Genet.; 13: 953-8. Describes one of the larger series of HLA typing in Europe.

Van de Velde, H., Georgiou, I., De Rycke, M., Schots, R., Sermon, K., Lissens, W., Devroey, P., Van Steirteghem, A., and Liebaers, I. (2004) Novel universal approach for preimplantation genetic diagnosis of beta-thalassaemia in combination with HLA matching of embryos. Hum. Reprod.; 19: 700-8. This novel approach was later copied by all centres carrying out HLA typing

Kahraman S, Findikli N, Karliklaya G, Sertyel S, Karadayi H, Saglam Y, Fiorentino F. Medical and social perspectives of PGD for single gene disorders and human leukocyte antigen typing. Reprod Biomed Online. 2007 Feb;14 Suppl 1:104-8.

Van de Velde H, De Rycke M, De Man C, De Hauwere K, Fiorentino F, Kahraman S, Pennings G, Verpoest W, Devroey P and Liebaers I (2009) The experience of two European preimplantation genetic diagnosis centres on human leukocyte antigen typing. Hum. Reprod. 24, 732-740

PGS

Staessen, C., Platteau, P., Van Assche, E., Michiels, A., Tournaye, H., Camus, M., Devroey, P., Liebaers, I., and Van Steirteghem, A.. (2004) Comparison of blastocyst transfer with or without preimplantation genetic diagnosis for aneuploidy screening in couples with advanced maternal age: a prospective randomized controlled trial. Hum. Reprod.; 19: 2849-58. First exhaustive RCT on PGS. Much discussed at its publication

Twisk M, Mastenbroek S, van Wely M, Heineman MJ, Van der Veen F, Repping S, Cochrane Database Syst Rev. 2006 Preimplantation genetic screening for abnormal number of chromosomes (aneuploidies) in in vitro fertilisation or intracytoplasmic sperm injection (Review) Jan 25;(1):CD005291. Review. PMID: 16437524 [PubMed - indexed for MEDLINE]

CGH/Microarrays

Le Caignec, C., Spits, C., Sermon, K., De Rycke, M., Thienpont, B., Debrock, S., Staessen, C., Moreau, Y., Fryns, J. P., Van Steirteghem, A., Liebaers, I., and Vermeesch, J. R.. (2006) Single-cell chromosomal imbalances detection by array CGH. Nucleic Acids Res.; 34: e68. PMID: 16698960 [PubMed - in process] Comprehensive description of the development of microarray-CGH at the single cell level, with presentation of reproducible results

Wilton, L. (2005) Preimplantation genetic diagnosis and chromosome analysis of blastomeres using comparative genomic hybridization. Hum. Reprod. Update.; 11: 33-41. Comprehensive review on CGH by one of the pioneers.

Genetics and embryology

Fragouli, E., Wells, D., Thornhill, A., Serhal, P., Faed, M. J., Harper, J. C., and Delhanty, J. D. (2006) Comparative genomic hybridization analysis of human oocytes and polar bodies. Hum. Reprod. 21:2319-28. Comprehensive study using molecular karyotyping for the comparison of polar body and oocyte chromosome content

Reviews

General reviews on PGD

The reviews include PGD for monogenic disorders and/or chromosomal abnormalities, and also discuss related subjects e.g. biopsy. Some include PGS, others don’t.

Wells D. Advances in preimplantation genetic diagnosis. Eur J Obstet Gynecol Reprod Biol. 2004 Jul 1;115 Suppl 1:S97-101. Review. PMID: 15196725 [PubMed - indexed for MEDLINE]

Sermon K, Van Steirteghem A, Liebaers I. Preimplantation genetic diagnosis. Lancet. 2004 May 15;363(9421):1633-41. Review. PMID: 15145639 [PubMed - indexed for MEDLINE]

Kanavakis E and Traeger-Synodinos J: Preimplantation genetic diagnosis in clinical practise. J Med Genet, 2002; 39(1): 6-11.

Kuliev A and Verlinsky Y: Preimplantation genetic diagnosis: a realistic option for assisted reproduction and genetic practice. Obstet Gynecol. 2005 Apr; 17(2):179-183.

Sermon, K. (2002) Current concepts in preimplantation genetic diagnosis (PGD): a molecular biologist's view. Hum. Reprod. Update.; 8: 11-20.

Braude, P., Pickering, S., Flinter, F., and Ogilvie, C. M. (2002) Preimplantation genetic diagnosis. Nat. Rev. Genet. 3: 941-53.

Pickering, S., Polidoropoulos, N., Caller, J., Scriven, P., Ogilvie, C. M., and Braude, P.. (2003) Strategies and outcomes of the first 100 cycles of preimplantation genetic diagnosis at the Guy's and St. Thomas' Center. Fertil. Steril.; 79: 81-90.

Renwick P, Ogilvie CM. Preimplantation genetic diagnosis for monogenic diseases: overview and emerging issues. Expert Rev Mol Diagn. 2007 Jan;7(1):33-43. Review.

ESHRE PGD Consortium reports

Geraedts, J., Handyside, A., Harper, J., Liebaers, I., Sermon, K., Staessen, C., Thornhill, A., Vanderfaeillie, A., and Viville, S. (1999) ESHRE Preimplantation Genetic Diagnosis (PGD) Consortium: preliminary assessment of data from January 1997 to September 1998. ESHRE PGD Consortium Steering Committee. Hum. Reprod.; 14: 3138-48.

Geraedts, J., Handyside, A., Harper, J., Liebaers, I., Sermon, K., Staessen, C., Thornhill, A., Viville, S., and Wilton, L. (2000) ESHRE preimplantation genetic diagnosis (PGD) consortium: data collection II (May 2000). Hum. Reprod.; 15: 2673-83. ESHRE PGD Consortium Steering Committee (2002) ESHRE Preimplantation Genetic Diagnosis Consortium: data collection III (May 2001). Hum. Reprod.; 17: 233-46.

Sermon, K., Moutou, C., Harper, J., Geraedts, J., Scriven, P., Wilton, L., Magli, M. C., Michiels, A., Viville, S., and De Die, C. (2005) ESHRE PGD Consortium data collection IV: May-December 2001. Hum. Reprod.; 20: 19-34.

Harper, J. C., Boelaert, K., Geraedts, J., Harton, G., Kearns, W. G., Moutou, C., Muntjewerff, N., Repping, S., SenGupta, S., Scriven, P. N., Traeger-Synodinos, J., Vesela, K., Wilton, L., and Sermon, K. D. (2006) ESHRE PGD Consortium data collection V: cycles from January to December 2002 with pregnancy follow-up to October 2003. Hum. Reprod.; 21: 3-21

Experiences

Vandervorst M, Staessen C, Sermon K, De Vos A, Van de Velde H, Van Assche E, Bonduelle M. Vanderfaellie A, Lissens W, Tournaye H, Devroey P, Van Steirteghem A, Liebaers I: The Brussels' experience of more than 5 years of clinical preimplantation genetic diagnosis. Hum Reprod 2000:6:364-373.

Verlinsky Y, Cohen J, Munne S, Gianaroli L, Simpson JL, Ferraretti AP, Kuliev A. Reproductive Genetics Institute. (2004) Over a decade of experience with preimplantation genetic diagnosis: A multicenter report. Fertil Steril 82: 292-4.

Guidelines

Thornhill AR, De Die-Smulders CE, Geraedts JP, Harper JC, Harton GL, Lavery SA, Moutou C, Robinson MD, Schmutzler AG, Scriven PN, Sermon KD, Wilton L. ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)' Hum Reprod. 2005 Jan;20(1):35-48. Epub 2004 Nov 11. Best point to start when you set up a PGD centre

Organization

Geraedts, J. P. Harper, J.Braude, P.Sermon, K.Veiga, A.Gianaroli, L. Agan, N.Munne, S. Gitlin, S. Blenow, E. de Boer, K. Hussey, N. Traeger-Synodinos J. Lee, S. H. Viville, S. Krey, L. Ray, P. Emiliani, S. Hsien Liu, Y. Vermeulen, S. Preimplantation genetic diagnosis (PGD), a collaborative activity of clinical genetic departments and IVF centres. Prenat. Diag. 2001; 21(12): 1086-1092.

Ethics and law/guidelines/socio-economic aspects

(No authors listed) (2004) The Preimplantation Genetic Diagnosis International Society (PGDIS): Guidelines for good practice in PGD. Reprod. Biomed. Online.; 9: 430-4. Listed for completeness. See also the much more extensive guidelines by the ESHRE PGD Consortium

Geraedts, J. P., Harper, J., Braude, P., Sermon, K., Veiga, A., Gianaroli, L., Agan, N., Munne, S., Gitlin, S., Blenow, E., de Boer, K., Hussey, N., Traeger-Synodinos, J., Lee, S. H., Viville, S., Krey, L., Ray, P., Emiliani, S., Liu, Y. H., and Vermeulen, S. (2001) Preimplantation genetic diagnosis (PGD), a collaborative activity of clinical genetic departments and IVF centres. Prenat. Diagn.; 21: 1086-92. Explains why exactly PGD needs a genetics centre as well as an IVF centre

Soini, S., Ibarreta, D., Anastasiadou, V., Ayme, S., Braga, S., Cornel, M., Coviello, D. A., Evers-Kiebooms, G., Geraedts, J., Gianaroli, L., Harper, J., Kosztolanyi, G., Lundin, K., Rodrigues-Cerezo, E., Sermon, K., Sequeiros, J., Tranebjaerg, L., and Kaariainen, H.. (2006) The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues. Eur. J. Hum. Genet.; 14: 588-645. Exhaustive report prepared jointly by the ESHG and ESHRE. Will hopefully be an eye-opener to EU legislators

The ESHRE Ethics Task Force, Shenfield, F., Pennings, G., Devroey, P., Sureau, C., Tarlatzis, B. and Cohen, J. (2003) Taskforce 5: Preimplantation genetic diagnosis. Hum Reprod. 18, 649-651. Reflects the views of the ESHRE task force, and in so doing also the different view points in Europe. Check out the bit about social sexing.

De Wert, G. (2005) Preimplantation genetic diagnosis: the ethics of intermediate cases. Hum. Reprod. 20, 3261-3266. This paper discussed PGD for late onset diseases, HLA, and other examples of what the author has called intermediate cases.

Boyle, R.J and Savulescu J: Ethics of using preimplantation genetic diagnosis to select a stem cell donor for an existing person. BMJ 2001; 323(7323): 1240-1243.

Braude PR, de Wert GMWR, Evers-Kiebooms G, Pettigrew RA, Geraedts JP: Non-disclosure preimplantation genetic diagnosis for Huntington’s disease: practical and ethical dilemma. Prenat Diagn 1998:18:1422-1426.

Pennings G; Schots R and Liebaers I: Ethical considerations on preimplantation genetic diagnosis for HLA typing to match a future child as a donor of hematopoietic stem cells to a sibling. Human Reproduction 2002; 17(3):534-538.

Shenfield F, Pennings G, Devroye P, Sureau C, Tarlatzis B and Cohen J. ESHRE Taskforce 5: Preimplantation genetic diagnosis. Human Reprod 2003; 18 (3):649-651.

The ESHRE ETHICS and Law Task Force, Taskforce 9: The Application of preimplantation genetic diagnosis for human leukocyte antigen typing of embryos. Human Reproduction 2005; 20(4):845-847.

Historical articles

Handyside AH, Kontogianni EG, Hardy K, Winston RM: Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 1990:344:768-770.

Other

The transmission of OXPHOS disease and methods to prevent this L.J.A.M.Jacobs, G.de Wert, J.P.M.Geraedts, I.F.M.de Coo and H.J.M.Smeets. Human Reproduction Update (2005).